Article

Detecting clinically actionable variants in the 3’ exons of <i>PMS2</i> via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene

2018-07-30

Abstract excerpt

<h4>Background</h4> Hereditary cancer screening (HCS) for germline variants in the 3’ exons of PMS2 , a mismatch repair gene implicated in Lynch syndrome, is technically challenging due to homology with its pseudogene PMS2CL . Sequences of PMS2 and PMS2CL are so similar that next-generation sequencing (NGS) of short fragments—common practice in multigene HCS panels—may identify the presence of a variant but f...

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Literature Corpus work: 7af87865-fed2-53c1-9944-238943591581
DOI: 10.1101/379693

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